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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0020555 | Hypertrichosis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0020555 | Hypertrichosis | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0020555 | Hypertrichosis | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0020555 | Hypertrichosis | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0020555 | Hypertrichosis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0020555 | Hypertrichosis | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0020555 | Hypertrichosis | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0020555 | Hypertrichosis | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0020555 | Hypertrichosis | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0020551 | Hyperthyroxinemia | ADH5 | 128 | alcohol dehydrogenase 5 (class III), chi polypeptide | P11766 |
| C0020550 | Hyperthyroidism | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0020550 | Hyperthyroidism | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0020550 | Hyperthyroidism | CS | 1431 | citrate synthase | O75390 |
| C0020550 | Hyperthyroidism | PC | 5091 | pyruvate carboxylase | P11498 |
| C0020550 | Hyperthyroidism | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0020550 | Hyperthyroidism | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020550 | Hyperthyroidism | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0020550 | Hyperthyroidism | ANXA5 | 308 | annexin A5 | P08758 |
| C0020550 | Hyperthyroidism | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0020550 | Hyperthyroidism | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0020550 | Hyperthyroidism | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0020550 | Hyperthyroidism | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0020550 | Hyperthyroidism | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0020550 | Hyperthyroidism | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0020550 | Hyperthyroidism | CAT | 847 | catalase | P04040 |
